RYR1 and myopathy: The expression of the c.14771_14772insTAGACAGGGTGTTGCTCTGTTGCCCTTCTT (p.F4924_V4925insRQGVALLPFF) (family NA-39) variant was reduced to about 13% of that of the control (Figure 3(b)). RYR1 missense alleles with null or reduced expression, mainly analyzed in muscle samples, have been reported in patients with RYR1-related myopathies [4, 46–52].